Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry-Reference-Cited by-同舟云学术

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Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry

Published:2014-05 Issue:1 Volume:112 Page:9-16
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Grange Dorothy K.,Hillman Richard E.,Burton Barbara K.,Yano Shoji,Vockley Jerry,Fong Chin-To,Hunt JoEllen,Mahoney John J.,Cohen-Pfeffer Jessica L.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference31 articles.

1. Maternal phenylketonuria and hyperphenylalaninemia;Lenke;N. Engl. J. Med.,1980

2. Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae;Rouse;Am. J. Med. Genet.,1997

3. Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation;Teissier;J. Inherit. Metab. Dis.,2012

4. The maternal phenylketonuria international study: 1984–2002;Koch;Pediatrics,2003

5. Newborn screening 50years later: access issues faced by adults with PKU;Berry;Genet. Med.,2013

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1. Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries;Journal of Inherited Metabolic Disease;2024-03-03

2. The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies;Molecular Genetics and Metabolism;2023-11

3. Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2023-09

4. Genetic etiology and clinical challenges of phenylketonuria;Human Genomics;2022-07-19

5. Hyperphenylalaninaemia;Inborn Metabolic Diseases;2022

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